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Summary
SC4MOL DEFICIENCY
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS MCCPD
616834
OMIM = Online Medalian Inheritance of Men
4q32.3
very rare
autosomal recessive
mutation in the methylsterol monooxygenase 1 gene
symptoms
blepharitis
cataract
contractures, joints
dermatitis
developmental delay
failure to thrive
hair, abnormal (thin, brittle, fine)
hypotonia
ichthyosis
mental retardation
microcephaly (<2 SD for age)
onset, childhood
onset, infancy
onset, neonatal
pain, bones or joints
puberty, delayed or missing
short stature
laboratory finding
Cholesterol lowplasma
HDL cholesterol lowplasma
Low-density lipoprotein (LDL) lowplasma
Literature
Foschi FG,et al.Urea cycle disorders: a case report of a successful treatment with liver transplant and a literature reviewWorld J Gastroenterol21134063-40682015
Nagahara N,et al.Antioxidant enzyme, 3-mercaptopyruvate sulfurtransferase-knockout mice exhibit increased anxiety-like behaviors: a model for human mercaptolactate-cysteine disulfiduria.Sci Rep3019862013
Ah Mew N,et al.Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamate.J Pediatr1652401-4032014